↓ Skip to main content

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder

Overview of attention for article published in Neurology, April 2015
Altmetric Badge

About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (85th percentile)
  • Good Attention Score compared to outputs of the same age and source (68th percentile)

Mentioned by

news
1 news outlet
twitter
2 X users

Citations

dimensions_citation
54 Dimensions

Readers on

mendeley
67 Mendeley
citeulike
1 CiteULike
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder
Published in
Neurology, April 2015
DOI 10.1212/wnl.0000000000001521
Pubmed ID
Authors

Patrick Santens, Tim Van Damme, Wouter Steyaert, Andy Willaert, Bernard Sablonnière, Anne De Paepe, Paul J Coucke, Bart Dermaut

Abstract

To identify the genetic cause in 2 Belgian families with autosomal recessive Huntington-like disorder (HDL). Homozygosity mapping and whole-exome sequencing in a consanguineous family as well as Sanger sequencing of the candidate gene in an independent family with HDL followed by genotype-phenotype correlation studies. We identified a homozygous mutation in the gene RNF216 p.(Gly456Glu) within a shared 4.8-Mb homozygous region at 7p22.3 in 2 affected siblings of a consanguineous HDL family. In an independent family, 2 siblings with HDL were compound heterozygous for mutations in RNF216 p.(Gln302*) and p.(Tyr539Cys). Chorea, behavioral problems, and severe dementia were the core clinical signs in all patients. Brain imaging consistently showed white matter lesions. Low gonadotropin serum levels and cerebellar atrophy could be demonstrated in the index family. Mutations in RNF216 have recently been found in families with Gordon Holmes syndrome, a condition defined by hypogonadotropic hypogonadism and cerebellar ataxia. The mode of inheritance was proposed to be oligogenic for most families. We describe novel RNF216 mutations causing an HDL phenotype with pure monogenic recessive inheritance. Subclinical serum evidence of hypogonadotropic hypogonadism links this disorder to Gordon Holmes syndrome. Our study thus challenges the oligogenic inheritance model and emphasizes chorea as an essential clinical feature in RNF216-mediated neurodegeneration.

X Demographics

X Demographics

The data shown below were collected from the profiles of 2 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 67 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 1 1%
Unknown 66 99%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 11 16%
Student > Master 9 13%
Other 7 10%
Student > Doctoral Student 6 9%
Researcher 6 9%
Other 16 24%
Unknown 12 18%
Readers by discipline Count As %
Medicine and Dentistry 16 24%
Agricultural and Biological Sciences 9 13%
Biochemistry, Genetics and Molecular Biology 7 10%
Neuroscience 7 10%
Psychology 4 6%
Other 4 6%
Unknown 20 30%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 11. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 31 July 2015.
All research outputs
#2,848,008
of 23,730,866 outputs
Outputs from Neurology
#5,333
of 20,380 outputs
Outputs of similar age
#37,193
of 265,403 outputs
Outputs of similar age from Neurology
#83
of 260 outputs
Altmetric has tracked 23,730,866 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 20,380 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 22.0. This one has gotten more attention than average, scoring higher than 73% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 265,403 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 85% of its contemporaries.
We're also able to compare this research output to 260 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 68% of its contemporaries.